ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2678G>A (p.Trp893Ter)

dbSNP: rs2039077331
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002570438 SCV003443668 pathogenic Fanconi anemia 2022-06-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 974335). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 15643609). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp893*) in the FANCA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192).
Leiden Open Variation Database RCV001256596 SCV001426088 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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